Laddar...

Oculodentodigital dysplasia

Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It aff...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Indian J Ophthalmol
Huvudupphovsmän: Doshi, Dharmil C, Limdi, Purvi K, Parekh, Nilesh V, Gohil, Neepa R
Materialtyp: Artigo
Språk:Inglês
Publicerad: Medknow Publications & Media Pvt Ltd 2016
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4869463/
https://ncbi.nlm.nih.gov/pubmed/27146935
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0301-4738.180191
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!